'Allelic heterogeneity' implies that different alleles in the same gene can cause a similar variant phenotype. Genetic or 'locus (nonallelic) heterogeneity' implies that mutation in different genes may explain one variant phenotype. When simultaneous expression of mutations in different genes is ...
(e.g.,Esr1,SP1,Klf4), and are known to be involved in preventing heart attack and cardiac hypertrophy30,38. Further, the DeMA genes are scattered throughout the genome, however, some showed clustering, and thus may be susceptible to disease caused by locus heterogeneity63. In summary, in ...
Sa.109. Allelic and Phenotypic Heterogeneity at the Autoimmune Susceptibility Locus IL2RACeramideCeramide-1-phosphateKinaseRetinitis pigmentosaCeramide kinaseA recent meta-analysis identified seven single-nucleotide polymorphisms (SNPs) with suggestive evidence of association with multiple sclerosis (MS). We ...
aHowever, it is also possible that variants identified in populations of European descent might not be applicable among Asians because of underlying genetic heterogeneity (both allelic and locus heterogeneity). 然而,它也是可能的在欧洲血脉的人口辨认的变形也许不是可适用的在亚洲人之中由于部下的基因非...
heterogeneity issues by the use of isolated cell types in monozygotic twin discordant models62. Therefore, researchers need to be as aware as possible of the potential genetic confounding and/or interaction, both directly or due to regional or neighbouring effects. Our data set adds to the ...
This may indicate the heterogeneity of the methylation status, suggesting only small number of cells harbored methylation (Table 3). In cases that underwent TUR, negative A antigen expression was significantly correlated with full methylation (P=0.035), but not with A allelic loss (P=0.26) (...
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Mosaic organization and heterogeneity in frequency of allelic recombination of the Plasmodium vivax merozoite surface protein-1 locus. Proc Natl Acad Sci USA 99: 16348–16353. Article CAS Google Scholar Rich SM, Ayala FJ (2000). Population structure and recent evolution of Plasmodium falciparum. ...
These novel and infrequently reported observations exemplify the allelic and genetic heterogeneity and show phenotypic diversity of WS.doi:10.1111/cge.13468Somashekar, Puneeth H.Girisha, Katta M.Nampoothiri, SheelaGowrishankar, KalpanaRama Devi, Radha...
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndromedoi:10.1111/cge.13468Puneeth H. SomashekarKatta M. GirishaSheela NampoothiriKalpana GowrishankarRadha R. DeviNeerja GuptaDhanya L. NarayananAnupriya KaurShruti Bajaj